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ORPHA:2500

Acrogeria

Also called Acrogeria, Gottron type, Acrometageria, Gottron syndrome

Body system
Skin diseases
Inheritance pattern
Unknown
Typical age of onset
Childhood, Infancy
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

About this disease

A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.

Definition from Orphanet.

Common signs

  • Joint hypermobility
  • Abnormality of the skin
  • Thin skin
  • Fine hair
  • Short stature
  • Irregular hyperpigmentation

Learn more

  • OrphanetORPHA:2500
  • MonarchMONDO:0008716
  • OMIM201200